Actively Recruiting
Gene Therapy for Alpha 1-Antitrypsin Deficiency Using AAV8hAAT(AVL) Through Intravenous Delivery
Led by Weill Medical College of Cornell University · Updated on 2026-03-13
16
Participants Needed
1
Research Sites
222 weeks
Total Duration
On this page
Sponsors
W
Weill Medical College of Cornell University
Lead Sponsor
N
National Heart, Lung, and Blood Institute (NHLBI)
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are evaluating a gene therapy called AAV8hAAT(AVL) to treat alpha 1-antitrypsin (AAT) deficiency. This condition affects the lungs due to a deficiency of the AAT protein. The study aims to deliver a single intravenous dose of this gene therapy, which codes for an oxidation-resistant form of the AAT protein, to see if it can safely and effectively protect the lungs over time. Participants will receive different doses of the gene therapy, with groups receiving varying amounts of vector genome copies per kilogram of body weight. The study is non-randomized and open-label, with no placebo group. The treatment is given as a one-time intravenous infusion, and researchers will observe the participants for safety, toxicity, and dosage tolerance over approximately two years. During the study, participants will undergo various assessments including blood tests to measure AAT levels in serum and lung fluid at multiple time points up to five years. Safety will be monitored by tracking serious adverse events and dose-limiting toxicities. Lung function will be evaluated by imaging and clinical tests. The total participation may last several years to gather long-term data on the gene therapy's effects and safety.
CONDITIONS
Brief Title
Gene Therapy for Alpha 1- Antitrypsin Deficiency
Who Can Participate
Eligibility Criteria
You may qualify if you...
- AAT genotype ZZ, or Z null heterozygotes, with pre-therapy AAT serum levels less than 11 bcM if on augmentation therapy
- Emphysema confirmed by chest high resolution computed tomography (HRCT)
- Lung function consistent with mild to moderate loss and presence of emphysema
- Troponin T levels within normal limits
- Normal liver ultrasound and serum alpha fetoprotein
- Normal kidney function
- No contraindications to corticosteroid immunosuppression
You will not qualify if you...
- Receiving systemic corticosteroids or other immunosuppressive medications for existing conditions
- Unable to tolerate corticosteroid immunosuppression (e.g., uncontrolled diabetes)
- Having immunodeficiency disease or active infection including HIV
- Major central nervous system, psychiatric, musculoskeletal or immune disorders
- History of myocardial infarction or cancer within past 5 years (except basal cell carcinoma)
- Decompensated heart failure (NYHA class III-IV at baseline)
- Abnormal ECG indicating cardiac disease
- Currently pregnant or breastfeeding
- History of allergies to drugs used in bronchoscopy
- Participating in other experimental treatments within 3 months before study
- Use of oxygen supplementation
- Risk for thromboembolic disease
- Significant cardiovascular disease, hypertension, prior myocardial infarction or cerebrovascular event
- Current use of beta-blockers or other cardiac therapies
- History of severe allergic reaction to any AAT product
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Single administration with monitoring up to 2 years
Participants receive a one-time intravenous infusion of the AAV8hAAT(AVL) gene therapy at varying doses.
Multiple follow-up visits over 2 years for safety and efficacy assessments
Duration - Up to 5 years
Participants are monitored for long-term safety and efficacy outcomes following treatment.
Periodic visits for serum and lung fluid assessments up to 5 years
Trial Site Locations
Total: 1 location
1
WCMC Department of Genetic Medicine
New York, New York, United States, 10021
Actively Recruiting
Research Team
N
Niamh Savage
S
Sandra Hyde
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
SEQUENTIAL
Primary Purpose
TREATMENT
Number of Arms
4
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here